A newly recognized syndrome of connective tissue dysplasia in siblings (previously described as a variant of Morquio disease).
Siblings (one male and one female) with a striking combination of multiple skeletal abnormalities, hypermobility in some joints with a restricted range of movements in others, mesodermal dysgenesis of the iris and cutaneous atrophy with thin skin, multiple telangiectases, shallow ulcers, and café au lait lesions are described. The patients were reported in early childhood as cases of Morquio disease (mucopolysaccharidosis IV) with previously unrecognized skin changes. The results of specific enzyme assays exclude a diagnosis of both of the known biochemical types of Morquio disease; the evolution of their disease and the present clinical findings are in accord with this. These patients do not correspond to any of the other mucopolysaccharidoses, mucolipidoses or sphingolipidoses. We have been unable to classify them as examples of other inherited skeletal dysplasias and we suggest that they probably have an, as yet unidentified, recessively inherited disorder of collagen.
D000293:Adolescent; D001848:Bone Diseases, Developmental / Q000201:enzymology / Q000235:genetics; D003095:Collagen Diseases / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000201:enzymology / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007498:Iris / Q000002:abnormalities; D008297:Male; D009085:Mucopolysaccharidosis IV / Q000175:diagnosis*; D010375:Pedigree; D011859:Radiography; D012867:Skin / Q000201:enzymology; D013577:Syndrome